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Protein

BTB/POZ domain-containing protein KCTD11

Gene

KCTD11

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Plays a role as a marker and a regulator of neuronal differentiation; Up-regulated by a variety of neurogenic signals, such as retinoic acid, epidermal growth factor/EGF and NGFB/nerve growth factor. Induces apoptosis, growth arrest and the expression of cyclin-dependent kinase inhibitor CDKN1B. Plays a role as a tumor repressor and inhibits cell growth and tumorigenicity of medulloblastoma (MDB). Acts as probable substrate-specific adapter for a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex towards HDAC1. Functions as antagonist of the Hedgehog pathway on cell proliferation and differentiation by affecting the nuclear transfer of transcription factor GLI1, thus maintaining cerebellar granule cells in undifferentiated state, this effect probably occurs via HDAC1 down-regulation, keeping GLI1 acetylated and inactive. When knock-down, Hedgehog antagonism is impaired and proliferation of granule cells is sustained. Activates the caspase cascade.3 Publications

Miscellaneous

Haploinsufficiency of KCTD11 may be a cause of development of medulloblastoma (MDB). MDB is a malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children. An allelic deletion involving genes from chromosome region 17p11.2-pter, sometimes restricted to 17p13.2-13.3, occurs in up to 50% of MDB.

Pathwayi: protein ubiquitination

This protein is involved in the pathway protein ubiquitination, which is part of Protein modification.
View all proteins of this organism that are known to be involved in the pathway protein ubiquitination and in Protein modification.

GO - Molecular functioni

  • identical protein binding Source: IntAct
  • transferase activity Source: UniProtKB-KW

GO - Biological processi

Keywordsi

Molecular functionDevelopmental protein, Transferase
Biological processCell cycle, Growth regulation, Ubl conjugation pathway

Enzyme and pathway databases

SIGNORiQ693B1.
UniPathwayiUPA00143.

Names & Taxonomyi

Protein namesi
Recommended name:
BTB/POZ domain-containing protein KCTD11
Alternative name(s):
KCASH1 protein1 Publication
Potassium channel tetramerization domain-containing protein 11
RING-type E3 ubiquitin transferase subunit KCTD111 Publication
Gene namesi
Name:KCTD11
Synonyms:C17orf36, REN
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000213859.4.
HGNCiHGNC:21302. KCTD11.

Subcellular locationi

Pathology & Biotechi

Keywords - Diseasei

Tumor suppressor

Organism-specific databases

DisGeNETi147040.
OpenTargetsiENSG00000213859.
PharmGKBiPA134890547.

Polymorphism and mutation databases

BioMutaiKCTD11.
DMDMi74708977.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002485911 – 232BTB/POZ domain-containing protein KCTD11Add BLAST232

Proteomic databases

PaxDbiQ693B1.
PRIDEiQ693B1.

PTM databases

iPTMnetiQ693B1.
PhosphoSitePlusiQ693B1.

Expressioni

Tissue specificityi

Higher expression in cerebellum than in whole brain and lower expression in medulloblastoma.1 Publication

Gene expression databases

BgeeiENSG00000213859.
CleanExiHS_KCTD11.
HS_REN.
ExpressionAtlasiQ693B1. baseline and differential.
GenevisibleiQ693B1. HS.

Organism-specific databases

HPAiHPA052035.

Interactioni

Subunit structurei

Homopentamer. Interacts with KCTD6 and KCTD21; KCTD11 and KCTD6 or KCTD21 may associate in pentameric assemblies. Component of the BCR(KCTD11) E3 ubiquitin ligase complex, at least composed of CUL3 and KCTD11 and RBX1. Interacts (via BTB domain) with CUL3; initially a 4:4 stoichiometry has been reported, however, electron microscopy revealed pentameric states of the BTB domain.4 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
itself2EBI-12552177,EBI-12552177

GO - Molecular functioni

  • identical protein binding Source: IntAct

Protein-protein interaction databases

BioGridi127031. 5 interactors.
STRINGi9606.ENSP00000328352.

Structurei

3D structure databases

ProteinModelPortaliQ693B1.
SMRiQ693B1.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1 – 49BTBAdd BLAST49

Domaini

The BTB domain is required for growth-suppressing properties.

Phylogenomic databases

eggNOGiKOG2723. Eukaryota.
ENOG410Z155. LUCA.
GeneTreeiENSGT00760000119013.
HOGENOMiHOG000231837.
HOVERGENiHBG080457.
InParanoidiQ693B1.
KOiK21920.
OMAiEWAPRPA.
OrthoDBiEOG091G039H.
PhylomeDBiQ693B1.
TreeFamiTF315332.

Family and domain databases

InterProiView protein in InterPro
IPR011333. SKP1/BTB/POZ_sf.
IPR003131. T1-type_BTB.
PfamiView protein in Pfam
PF02214. BTB_2. 1 hit.
SUPFAMiSSF54695. SSF54695. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative initiation. AlignAdd to basket

Isoform 1 (identifier: Q693B1-1) [UniParc]FASTAAdd to basket
Also known as: sKCTD11

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MLGAMFRAGT PMPPNLNSQG GGHYFIDRDG KAFRHILNFL RLGRLDLPRG
60 70 80 90 100
YGETALLRAE ADFYQIRPLL DALRELEASQ GTPAPTAALL HADVDVSPRL
110 120 130 140 150
VHFSARRGPH HYELSSVQVD TFRANLFCTD SECLGALRAR FGVASGDRAE
160 170 180 190 200
GSPHFHLEWA PRPVELPEVE YGRLGLQPLW TGGPGERREV VGTPSFLEEV
210 220 230
LRVALEHGFR LDSVFPDPED LLNSRSLRFV RH
Length:232
Mass (Da):25,887
Last modified:September 13, 2004 - v1
Checksum:i7F075902E4259B2D
GO
Isoform 2 (identifier: Q693B1-2) [UniParc]FASTAAdd to basket
Also known as: lKCTD11

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MSPPPVPSSPPSFGGPVTLNVGGTLYSTTLETLTRFPDSM

Note: Non-AUG start codon.
Show »
Length:271
Mass (Da):29,875
Checksum:i79D501B415B3B608
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02735422G → S. Corresponds to variant dbSNP:rs8080182Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0440861M → MSPPPVPSSPPSFGGPVTLN VGGTLYSTTLETLTRFPDSM in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY646650 mRNA. Translation: AAT75307.1.
AK056227 mRNA. Translation: BAG51652.1.
CH471108 Genomic DNA. Translation: EAW90208.1.
BC110598 mRNA. Translation: AAI10599.1.
CCDSiCCDS32545.1. [Q693B1-1]
RefSeqiNP_001002914.1. NM_001002914.2. [Q693B1-1]
UniGeneiHs.592112.

Genome annotation databases

EnsembliENST00000333751; ENSP00000328352; ENSG00000213859. [Q693B1-1]
GeneIDi147040.
KEGGihsa:147040.
UCSCiuc002gge.5. human. [Q693B1-1]

Keywords - Coding sequence diversityi

Alternative initiation, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiKCD11_HUMAN
AccessioniPrimary (citable) accession number: Q693B1
Secondary accession number(s): B3KPE0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: September 5, 2006
Last sequence update: September 13, 2004
Last modified: November 22, 2017
This is version 111 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Caution

A N-terminal fragment of KCTD11 isoform 2 (comprising residues 15 - 115) has been used for some KCTD11:CUL3 interaction studies.1 Publication

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways